Tuesday, August 16, 2005

Feeling More Comfortable

I am becoming more comfortable with this situation. Praise God. We received an e-mail from one of the top doctors (who is also a researcher) in the US who knows 7 patients with the same gene mutation as David's (257 G>A) and all of them have XLT (x-linked thrombocytopenia). XLT does not necessitate a BMT. He said this mutation is one of the mildest forms of XLT and should not even be called Wiskott-Aldrich Syndrome, although the gene mutated in David is the gene responsible for WAS. He said at David's age, the only serious potential problem related to this mutation is bleeding, mainly into his brain. This is why David always wears his helmet.

This was not an official medical prognosis. It was just an email correspondence based on what I told him. We are still looking forward to visiting the National Institute of Health in the next week or two. We should get some better answers from NIH.

10 comments:

Anonymous said...
This comment has been removed by a blog administrator.
Anonymous said...
This comment has been removed by a blog administrator.
Anonymous said...
This comment has been removed by a blog administrator.
Anonymous said...
This comment has been removed by a blog administrator.
Anonymous said...

Aimee ~ This is wonderful to hear! I am hoping with all my might that when you see the doctor, that he will give you this same prognosis. Please look into taking vitamin K1 and K2 supplements. Will help David with the bleeding (obtained from nursing and possibly giving them to him directly? Ask Dr.). Very little vit K is absorbed from food. Only about 10%. Anyway, we love you and will think positive thoughts. Love you Aunt V and Uncle D

Anonymous said...
This comment has been removed by a blog administrator.
Anonymous said...
This comment has been removed by a blog administrator.
Anonymous said...
This comment has been removed by a blog administrator.
Anonymous said...
This comment has been removed by a blog administrator.
Free_Ipod said...

My wife and and our two sons have familiar thrombocytopenia. They have it through my mother in law and she from her dad. We've been to many Hematologist and no one can really explain much about this blood disorder. We subcribe to the same faith based philosophy, let God handle it. Best Wishes!